Tissue Is the Issue (Video)

We describe a 34-year-old gentleman with a multifocal central nervous system and ocular disease, with chronic lesions of the corneosclera, pons, thalami, pituitary with chronic left sided weakness and dysarthria, now presenting with progressive vision loss associated with involvement of the optic nerves and chiasm. Further history revealed that the patient had suffered progressive clinical impairments for several years including gait instability, pseudobulbar affect, difficulty sleeping, and dysphagia. He also had chronic corneal scleral lesions leading to an excision with pathology showing conjunctiva with goblet cell loss, squamous metaplasia, subepithelial fibrosis and scattered lymphocytes. There was no distinct neoplasm. Some basal epithelial pigmentation were present, but no atypical melanocytes. MR imaging for the neurological symptoms in 2015 was notable for FLAIR hyperintense and enhancing lesions in the brainstem having spread further throughout brainstem, diencephalon, and bilateral temporal lobes. Serologic and spinal fluid workup were negative for an acute inflammatory or infectious etiology as well as malignancy. A left temporal lobe biopsy in 2015 was therefore undertaken given severe, refractory disease. Repeat lumbar puncture in the context of presumed optic neuritis demonstrated normal cell counts. Cytological analysis and flow cytometry was normal.